ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg)

dbSNP: rs1815967070
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331907 SCV001524059 uncertain significance Ritscher-Schinzel syndrome 1 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989683 SCV004808031 uncertain significance Hereditary spastic paraplegia 8 2024-03-29 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.